Incidental Mutation 'R3034:Bltp3a'
ID 264803
Institutional Source Beutler Lab
Gene Symbol Bltp3a
Ensembl Gene ENSMUSG00000039512
Gene Name bridge-like lipid transfer protein family member 3A
Synonyms 1110020K19Rik, F830021D11Rik, Uhrf1bp1
MMRRC Submission 040550-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3034 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 28075481-28119014 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 28113720 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 1297 (D1297E)
Ref Sequence ENSEMBL: ENSMUSP00000110499 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114849]
AlphaFold B2KF50
Predicted Effect probably damaging
Transcript: ENSMUST00000114849
AA Change: D1297E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110499
Gene: ENSMUSG00000039512
AA Change: D1297E

DomainStartEndE-ValueType
Pfam:Chorein_N 1 104 2.6e-18 PFAM
low complexity region 234 247 N/A INTRINSIC
low complexity region 297 306 N/A INTRINSIC
low complexity region 1128 1144 N/A INTRINSIC
low complexity region 1200 1216 N/A INTRINSIC
low complexity region 1322 1333 N/A INTRINSIC
low complexity region 1375 1386 N/A INTRINSIC
coiled coil region 1394 1424 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137825
Meta Mutation Damage Score 0.2453 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 100% (44/44)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox12e T C 11: 70,207,079 (GRCm39) I576V probably benign Het
Apol7a T G 15: 77,273,923 (GRCm39) I180L probably benign Het
Aptx T C 4: 40,694,994 (GRCm39) N114S probably benign Het
Cd40 T A 2: 164,904,235 (GRCm39) S65R probably benign Het
Cdh23 C T 10: 60,244,789 (GRCm39) probably benign Het
Coro7 G A 16: 4,450,155 (GRCm39) R565W probably damaging Het
Cpt1a C T 19: 3,428,390 (GRCm39) T588M probably damaging Het
Defb23 A G 2: 152,301,189 (GRCm39) S128P possibly damaging Het
Dgki G A 6: 37,064,605 (GRCm39) H250Y probably damaging Het
Fgr T C 4: 132,725,807 (GRCm39) probably null Het
Fkbp15 T C 4: 62,225,129 (GRCm39) probably null Het
Gpr137c C T 14: 45,457,733 (GRCm39) S95L probably damaging Het
Kirrel1 T C 3: 86,990,746 (GRCm39) D692G possibly damaging Het
Krt1 C A 15: 101,759,068 (GRCm39) R32L unknown Het
Lama2 C T 10: 26,877,231 (GRCm39) E2652K probably benign Het
Mbl1 C A 14: 40,880,790 (GRCm39) S226Y probably damaging Het
Mrps28 T A 3: 8,988,675 (GRCm39) D61V probably benign Het
Mthfd1 A G 12: 76,336,244 (GRCm39) K299E probably benign Het
Myo1b A G 1: 51,812,406 (GRCm39) Y738H possibly damaging Het
Myo5c A G 9: 75,193,859 (GRCm39) T1205A probably benign Het
Nfatc2 C T 2: 168,376,940 (GRCm39) G317S probably damaging Het
Nln C T 13: 104,173,947 (GRCm39) V525I possibly damaging Het
Nrap T C 19: 56,352,437 (GRCm39) E549G probably damaging Het
Nwd2 T A 5: 63,957,446 (GRCm39) Y259N probably damaging Het
Oas3 T C 5: 120,909,121 (GRCm39) D275G probably damaging Het
Or14a256 A T 7: 86,264,970 (GRCm39) D294E possibly damaging Het
Ovch2 A G 7: 107,384,699 (GRCm39) S473P probably damaging Het
Pde8b T A 13: 95,359,275 (GRCm39) Y16F probably damaging Het
Pmfbp1 A T 8: 110,247,553 (GRCm39) probably null Het
Pmvk T C 3: 89,375,824 (GRCm39) V74A probably damaging Het
Rab36 G A 10: 74,880,328 (GRCm39) V63I probably damaging Het
Rbm26 T A 14: 105,390,881 (GRCm39) T202S unknown Het
Rheb C T 5: 25,008,721 (GRCm39) E166K probably damaging Het
Rnf5 A G 17: 34,822,332 (GRCm39) V39A possibly damaging Het
Scn7a T C 2: 66,513,152 (GRCm39) Y1168C probably damaging Het
Tas2r114 A G 6: 131,666,611 (GRCm39) I139T probably benign Het
Tma7 T C 9: 108,911,274 (GRCm39) probably benign Het
Tmem181a T A 17: 6,330,901 (GRCm39) S13T possibly damaging Het
Tmem62 C T 2: 120,809,605 (GRCm39) probably benign Het
Trim71 T C 9: 114,341,912 (GRCm39) D790G probably damaging Het
Trp53tg5 T C 2: 164,313,219 (GRCm39) K152R probably benign Het
Zdbf2 C A 1: 63,343,364 (GRCm39) A581E probably damaging Het
Other mutations in Bltp3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00675:Bltp3a APN 17 28,095,891 (GRCm39) splice site probably benign
IGL00786:Bltp3a APN 17 28,098,266 (GRCm39) missense probably damaging 0.99
IGL01074:Bltp3a APN 17 28,098,265 (GRCm39) missense possibly damaging 0.94
IGL01780:Bltp3a APN 17 28,112,474 (GRCm39) missense probably damaging 1.00
IGL02668:Bltp3a APN 17 28,105,549 (GRCm39) missense possibly damaging 0.53
IGL02686:Bltp3a APN 17 28,113,563 (GRCm39) missense probably benign
IGL03240:Bltp3a APN 17 28,112,227 (GRCm39) missense probably benign 0.37
hades UTSW 17 28,113,720 (GRCm39) missense probably damaging 1.00
R0167:Bltp3a UTSW 17 28,099,176 (GRCm39) missense possibly damaging 0.46
R0240:Bltp3a UTSW 17 28,114,844 (GRCm39) splice site probably benign
R0332:Bltp3a UTSW 17 28,112,268 (GRCm39) critical splice donor site probably null
R0668:Bltp3a UTSW 17 28,114,913 (GRCm39) missense probably benign 0.16
R0726:Bltp3a UTSW 17 28,104,463 (GRCm39) missense possibly damaging 0.50
R0964:Bltp3a UTSW 17 28,106,152 (GRCm39) missense probably damaging 0.96
R1125:Bltp3a UTSW 17 28,112,423 (GRCm39) missense probably damaging 1.00
R1139:Bltp3a UTSW 17 28,109,045 (GRCm39) missense possibly damaging 0.87
R1164:Bltp3a UTSW 17 28,114,354 (GRCm39) critical splice donor site probably null
R1192:Bltp3a UTSW 17 28,109,045 (GRCm39) missense possibly damaging 0.87
R1277:Bltp3a UTSW 17 28,109,045 (GRCm39) missense possibly damaging 0.87
R1279:Bltp3a UTSW 17 28,109,045 (GRCm39) missense possibly damaging 0.87
R1340:Bltp3a UTSW 17 28,113,695 (GRCm39) missense probably benign 0.00
R1341:Bltp3a UTSW 17 28,096,393 (GRCm39) splice site probably benign
R1344:Bltp3a UTSW 17 28,113,551 (GRCm39) missense probably benign 0.41
R1418:Bltp3a UTSW 17 28,113,551 (GRCm39) missense probably benign 0.41
R1552:Bltp3a UTSW 17 28,109,045 (GRCm39) missense possibly damaging 0.87
R1726:Bltp3a UTSW 17 28,105,225 (GRCm39) splice site probably null
R1791:Bltp3a UTSW 17 28,113,720 (GRCm39) missense probably damaging 1.00
R1796:Bltp3a UTSW 17 28,109,045 (GRCm39) missense possibly damaging 0.87
R2858:Bltp3a UTSW 17 28,104,436 (GRCm39) missense probably damaging 0.99
R4111:Bltp3a UTSW 17 28,105,064 (GRCm39) nonsense probably null
R4159:Bltp3a UTSW 17 28,103,061 (GRCm39) missense probably damaging 1.00
R4160:Bltp3a UTSW 17 28,103,061 (GRCm39) missense probably damaging 1.00
R4161:Bltp3a UTSW 17 28,103,061 (GRCm39) missense probably damaging 1.00
R4431:Bltp3a UTSW 17 28,104,905 (GRCm39) missense probably damaging 1.00
R4575:Bltp3a UTSW 17 28,106,477 (GRCm39) missense probably benign 0.02
R4657:Bltp3a UTSW 17 28,109,079 (GRCm39) missense probably benign 0.09
R4666:Bltp3a UTSW 17 28,112,477 (GRCm39) missense possibly damaging 0.95
R4825:Bltp3a UTSW 17 28,096,368 (GRCm39) missense probably damaging 0.98
R4872:Bltp3a UTSW 17 28,109,110 (GRCm39) missense probably benign 0.10
R4956:Bltp3a UTSW 17 28,108,958 (GRCm39) splice site probably null
R4976:Bltp3a UTSW 17 28,103,000 (GRCm39) missense probably damaging 0.99
R4982:Bltp3a UTSW 17 28,105,580 (GRCm39) missense probably benign 0.05
R5017:Bltp3a UTSW 17 28,113,713 (GRCm39) nonsense probably null
R5033:Bltp3a UTSW 17 28,105,838 (GRCm39) missense probably damaging 0.99
R5137:Bltp3a UTSW 17 28,095,964 (GRCm39) splice site probably null
R5159:Bltp3a UTSW 17 28,100,530 (GRCm39) missense probably damaging 0.98
R5177:Bltp3a UTSW 17 28,103,992 (GRCm39) missense possibly damaging 0.94
R5196:Bltp3a UTSW 17 28,075,737 (GRCm39) missense probably benign 0.09
R5214:Bltp3a UTSW 17 28,106,489 (GRCm39) missense probably benign
R5352:Bltp3a UTSW 17 28,106,489 (GRCm39) missense probably benign
R5354:Bltp3a UTSW 17 28,106,489 (GRCm39) missense probably benign
R5425:Bltp3a UTSW 17 28,106,489 (GRCm39) missense probably benign
R5601:Bltp3a UTSW 17 28,103,468 (GRCm39) missense probably damaging 1.00
R6080:Bltp3a UTSW 17 28,099,271 (GRCm39) missense probably benign
R6088:Bltp3a UTSW 17 28,103,579 (GRCm39) critical splice donor site probably null
R6331:Bltp3a UTSW 17 28,112,175 (GRCm39) missense probably benign 0.01
R6529:Bltp3a UTSW 17 28,098,750 (GRCm39) missense possibly damaging 0.90
R6614:Bltp3a UTSW 17 28,095,899 (GRCm39) missense probably benign 0.18
R6701:Bltp3a UTSW 17 28,106,331 (GRCm39) nonsense probably null
R7082:Bltp3a UTSW 17 28,109,039 (GRCm39) missense probably damaging 1.00
R7158:Bltp3a UTSW 17 28,105,407 (GRCm39) nonsense probably null
R8338:Bltp3a UTSW 17 28,095,669 (GRCm39) missense probably damaging 1.00
R8914:Bltp3a UTSW 17 28,105,887 (GRCm39) missense possibly damaging 0.66
R9135:Bltp3a UTSW 17 28,104,902 (GRCm39) nonsense probably null
R9218:Bltp3a UTSW 17 28,114,529 (GRCm39) missense probably benign 0.00
R9421:Bltp3a UTSW 17 28,095,660 (GRCm39) missense probably damaging 1.00
R9495:Bltp3a UTSW 17 28,112,414 (GRCm39) missense probably damaging 1.00
R9514:Bltp3a UTSW 17 28,112,414 (GRCm39) missense probably damaging 1.00
R9621:Bltp3a UTSW 17 28,105,753 (GRCm39) missense probably benign 0.00
R9766:Bltp3a UTSW 17 28,105,799 (GRCm39) missense probably damaging 1.00
RF005:Bltp3a UTSW 17 28,104,505 (GRCm39) missense probably damaging 1.00
X0017:Bltp3a UTSW 17 28,096,315 (GRCm39) missense probably benign 0.03
Z1176:Bltp3a UTSW 17 28,105,280 (GRCm39) missense probably damaging 1.00
Z1176:Bltp3a UTSW 17 28,095,650 (GRCm39) missense probably damaging 1.00
Z1177:Bltp3a UTSW 17 28,103,940 (GRCm39) missense not run
Predicted Primers PCR Primer
(F):5'- GGCGCAGGTTTTCAAGAAC -3'
(R):5'- AGAGCCAGCCATCTTCCTAC -3'

Sequencing Primer
(F):5'- GGTTTTCAAGAACCCTCAAATCTG -3'
(R):5'- TGCACTACCTTCCGGCAG -3'
Posted On 2015-02-05